how to cite this article: heidari mm , khatami m, pourakrami j. novel point mutations in frataxin gene in iranian patients with friedreich’s ataxia. iran j child neurol. 2014 winter; 8(1):32-36.   objective friedreich’s ataxia is the most common form of hereditary ataxia with autosomal recessive pattern. more than 96% of patients are homozygous for gaa repeat extension on both alleles in the fi...

Monolayer Contact Doping (MLCD) is a simple method for doping of surfaces and nanostructures(1). MLCD results in the formation of highly controlled, ultra shallow and sharp doping profiles at the nanometer scale. In MLCD process the dopant source is a monolayer containing dopant atoms. In this article a detailed procedure for surface doping of silicon substrate as well as silicon nanowires is d...

Guanidinoacetic acid (GAA) is the biosynthetic precursor of creatine which is involved in storage and transmission of phosphate-bound energy. Hepatocytes readily convert GAA to creatine, raising the possibility that the active uptake of GAA by hepatocytes is a regulatory factor. The purpose of this study is to investigate and identify the transporter responsible for GAA uptake by hepatocytes. T...

Guanidinoacetic acid (GAA) is the natural biosynthetic precursor of creatine, in a metabolic reaction that requires only a methyl group transfer. The use of GAA as a food additive for restoring creatine load in human tissues is rather unexplored and data on efficacy and safety are limited. In particular, an increase in serum homocysteine after GAA administration can be regarded as critical and ...

of the thesis The thesis describes the realization of high-performance silicon nanowire (Si NW) logic circuits and a novel surface modification technique for nanoscale electronics applications. First, doped Si NWs were generated via the superlattice nanowire pattern transfer (SNAP) process, forming aligned, uniform, ultra-dense NW arrays. The NWs served as the channel material for field-effect ...

Silicon (Si) nanowire (NW) coils were fabricated on elastomeric substrates by a controlled buckling process. Si NWs were first transferred onto prestrained and ultraviolet/ozone (UVO)-treated poly(dimethylsiloxane) (PDMS) substrates and buckled upon release of the prestrain. Two buckling modes (the in-plane wavy mode and the three-dimensional coiled mode) were found; a transition between them w...

This paper presents an analytical model for the potential distribution of a p-n-i-n tunneling field effect transistor (TFET). Using the potential distribution, the tunneling drain current is derived analytically by integrating the band-to-band tunneling generation rate over the device volume. According to our knowledge, there is no analytical analysis for this structure in the literature, and t...

The semi-essential nutrient creatine is an important molecule in the cellular energy metabolism for short term energy storage. Energy from surplus adenosine tri-phosphate (ATP) can quickly be overtaken by creatine and vice versa. Supplemental guanidino acetic acid (GAA) is a natural precursor of creatine and might be used as creatine source. Either no (negative control), 0.20, 0.40, or 0.60 g/k...

SLC16A12 is a recently identified creatine transporter of unknown physiological function. A heterozygous mutation in the human gene causes juvenile cataracts and reduced plasma guanidinoacetate (GAA) levels with an increased fractional urinary excretion GAA. Our study transgenic SLC16A12-deficient rats reveals that critical for tubular reabsorption GAA kidney. data furthermore indicate dominant...